A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4221867



Internal ID20078195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36305719..36386057hg38UCSC Ensembl
chr13:36879856..36960194hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3880339
hg1980339
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950616
Samples
Known GenesSPG20, SPG20OS
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4221867
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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